Tay Sachs Disease

Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly occurring in children, that results in progressive destruction of the nervous system. Tay-Sachs is caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A).

What is Tay-Sachs Disease?

Tay-Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis or Hexosaminidase A deficiency) is an autosomal recessive genetic disorder. In its most common variant known as infantile Tay-Sachs disease it presents with a relentless deterioration of mental and physical abilities which commences at 6 months of age and usually results in death by the age of four.

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Latest Tay Sachs Disease News and Research

Protein identified as key to preventing fat build-up and related diseases

Accumulation of fat molecules is detrimental to the cell. Researchers from the Yong Loo Lin School of Medicine, National University of Singapore (NUS Medicine), have made a breakthrough in understanding how our cells manage to stay healthy by recycling important fat molecules.

11 Feb 2025

Study identifies a potential treatment for Sandhoff and Tay-Sachs diseases

In a groundbreaking study, researchers at McMaster University have identified a potential treatment for Sandhoff and Tay-Sachs diseases—two rare, often fatal lysosomal storage disorders that cause progressive damage to nerve cells in the brain and spinal cord.

14 Nov 2024

Known genes account for most undiagnosed cases of developmental disorders

Scientists have conducted the largest and most diverse study to date on how recessive genetic changes contribute to developmental disorders. They found that most undiagnosed cases that are due to recessive causes are linked to genes we already know about, and suggest a shift in research focus could improve diagnosis rates.

24 Sep 2024

Quick genetic test offers hope for sick, undiagnosed kids. but few insurers offer to pay.

Just 48 hours after her birth in a Seattle-area hospital in 2021, Layla Babayev was undergoing surgery for a bowel obstruction.

23 Oct 2023

ChatGPT: A diagnostic sidekick for doctors? Caution advised for non-professionals

Research evaluates the diagnostic accuracy of ChatGPT, an AI language model, in providing medical advice online. It concludes that ChatGPT can be a useful tool for assisting human doctors in diagnosing difficult cases, but non-professionals should use it with caution.

27 Apr 2023

AI tool promises to accelerate the development of gene therapies on a large scale

An artificial intelligence (AI) program may enable the first simple production of customizable proteins called zinc fingers to treat diseases by turning genes on and off.

26 Jan 2023

U-M researchers reveal how a mutated protein acts as risk factor in Parkinson’s disease

In about a fifth of the cases of Parkinson’s disease, look to a small, malfunctioning protein in the lysosome as a risk factor, say University of Michigan researchers.

23 Jun 2022

Using genetic screening for selecting the 'best' embryo in IVF

Each year, tens of thousands of babies are born in the United States as the result of IVF (in vitro fertilization) – where several eggs are fertilized outside the mother's body and then an embryo is selected for transfer into her womb.

12 Oct 2021

A new combination therapy for treating rare, fatal Sanfilippo syndrome in children

A study aiming to develop a new therapeutic technique could bring a revolution in our approach to treating rare, fatal Sanfilippo syndrome, a disorder that affects children as young as 2 years old and leads to childhood dementia and premature death.

24 Feb 2021

Study underscores the need for more precise rare disease definitions

Some diseases are like black swans. They occur so rarely that many physicians never encounter them in their clinical practice, complicating efforts to treat them.

5 Feb 2020

New CRISPR genome “prime editing” system

Gene editing to correct genetic faults and removing the risk of hereditary diseases may soon become reality. Researchers have come up with a new gene editing technology that could help patients with sickle cell anaemia and up 89 percent of other genetic defects.

22 Oct 2019

$28 million grant supports Cincinnati Children's role as coordinating center for Rare Diseases Clinical Research Network

The federal agency that oversees a large network of research centers seeking cures for hundreds of rare, disabling and often fatal diseases has named Cincinnati Children's as its new data management and coordinating center.

4 Oct 2019

New blood test detects genetic disorders in fetuses

Tel Aviv University researchers have developed a new blood test for genetic disorders that may allow parents to learn about the health of their baby as early as 11 weeks into pregnancy.

21 Feb 2019

Gene therapy is the best stratagem to impact the course of GM2 gangliosidosis

Since its clinical description in 1881, Tay-Sachs disease has had almost totemic significance as a cruel and relentless genetic condition that destroys the developing brain of babies and young children.

28 Apr 2018

Actress Kiruna Stamell argues about gene editing with Dr Christopher Gyngell

Two papers published today by the Journal of the Royal Society of Medicine, debate gene editing and the health of future generations.

29 Apr 2017

New gene therapy shows promising results for treating neurodegenerative disorders

A new gene therapy approach designed to replace the enzyme that is deficient in patients with the inherited neurodegenerative disorders Tay-Sachs and Sandhoff diseases successfully delivered the therapeutic gene to the brains of treated mice, restored enzyme function, and extended survival by about 2.5-fold.

28 Jul 2016

Mutation that increases sphingolipid levels can lead to neurodegeneration

A mutation that increases the level of a special class of sphingolipids--molecules important to cell structure and signaling--can lead to neurodegeneration due to problems with neuronal membranes, reports a research team led by Jackson Laboratory Research Scientist Lihong Zhao, Ph.D. and Professor Patsy Nishina, Ph.D.

7 Oct 2015

Researchers find genetic mutation that causes glycogen storage disease type IIIa in Inuit

A team of Canadian and Japanese researchers has identified the genetic mutation responsible for glycogen storage disease type IIIa in Inuit in northern Quebec, Canada, in a study published in CMAJ (Canadian Medical Association Journal).

20 Jan 2015

Genetic basis of hereditary disease causes severe brain atrophy in Jews of Moroccan ancestry

Ben-Gurion University of the Negev (BGU) researchers have unraveled the genetic basis of a hereditary disease that causes severe brain atrophy, mental retardation and epilepsy in Jews of Moroccan ancestry, according to a study published this week online in the Journal of Medical Genetics.

11 Mar 2014

LUHS offers highly accurate prenatal test to determine chromosomal abnormalities in fetus

Loyola University Health System (LUHS) now offers chorionic villus sampling (CVS), a highly accurate prenatal test for chromosomal abnormalities in the fetus. Loyola is one of the few centers in the Chicago area to offer CVS.

12 Nov 2013